Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770074196
rs770074196
LIPA
C 0.700 CausalMutation CLINVAR Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. 24993530

2014
dbSNP: rs770074196
rs770074196
LIPA
C 0.700 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999